Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Pgghg'

318043

Institutional Source

Beutler Lab

Gene Symbol

Pgghg

Ensembl Gene

ENSMUSG00000062031

Gene Name

protein glucosylgalactosylhydroxylysine glucosidase

Synonyms

5730511L01Rik, Athl1

MMRRC Submission

039974-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140521304-140527577 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140523260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 180 (M180V)

Ref Sequence

ENSEMBL: ENSMUSP00000128214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079403] [ENSMUST00000163094] [ENSMUST00000164580]

AlphaFold

Q8BP56

Predicted Effect

probably benign
Transcript: ENSMUST00000079403
AA Change: M180V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031
AA Change: M180V

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_65m	279	496	3.5e-49	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000163094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164337

SMART Domains

Protein: ENSMUSP00000127119
Gene: ENSMUSG00000062031

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_65m	219	464	3.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164580
AA Change: M180V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128214
Gene: ENSMUSG00000062031
AA Change: M180V

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_65m	279	496	3.6e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169736

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	C	T	3: 145,643,976 (GRCm39)	P55S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aoc1l1	C	T	6: 48,952,687 (GRCm39)	T204I	probably damaging	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arid1a	A	T	4: 133,480,401 (GRCm39)	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,480,539 (GRCm39)	I358T	probably benign	Het
Camkk2	G	A	5: 122,875,575 (GRCm39)	R492*	probably null	Het
Capn3	T	C	2: 120,294,421 (GRCm39)	V23A	probably benign	Het
Carm1	T	G	9: 21,491,606 (GRCm39)	V225G	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc60	C	A	5: 116,284,243 (GRCm39)	M298I	probably benign	Het
Celsr3	C	T	9: 108,723,016 (GRCm39)	P2801L	probably benign	Het
Clec4n	T	A	6: 123,207,505 (GRCm39)	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,948,382 (GRCm39)	L231V	probably damaging	Het
Csrnp3	T	G	2: 65,853,363 (GRCm39)	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,257 (GRCm39)	S318P	probably damaging	Het
Cubn	A	T	2: 13,344,828 (GRCm39)		probably null	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dnajc24	A	G	2: 105,832,268 (GRCm39)		probably benign	Het
Dner	A	T	1: 84,423,177 (GRCm39)	S475R	probably damaging	Het
Dtnb	T	C	12: 3,831,190 (GRCm39)	L630P	probably benign	Het
Dysf	T	C	6: 84,050,885 (GRCm39)	F411L	probably benign	Het
Fbh1	G	A	2: 11,762,339 (GRCm39)	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,315,004 (GRCm39)	T186K	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Grhl2	T	A	15: 37,336,558 (GRCm39)	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,551,742 (GRCm39)	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,553,127 (GRCm39)	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kifc1	A	G	17: 34,103,561 (GRCm39)		probably null	Het
Klk13	T	A	7: 43,370,431 (GRCm39)	N31K	possibly damaging	Het
Klri1	T	A	6: 129,674,347 (GRCm39)	H221L	probably benign	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Med16	T	C	10: 79,742,929 (GRCm39)	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,076,983 (GRCm39)	I92F	probably benign	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,055,139 (GRCm39)	F441I	probably damaging	Het
Ndst4	T	A	3: 125,232,331 (GRCm39)	L300*	probably null	Het
Nlgn2	G	T	11: 69,718,136 (GRCm39)	D356E	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Oas1f	G	A	5: 120,994,502 (GRCm39)	C341Y	possibly damaging	Het
Olfm5	A	T	7: 103,809,619 (GRCm39)	C111S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6c74	C	T	10: 129,870,187 (GRCm39)	Q231*	probably null	Het
Or6f2	A	T	7: 139,756,596 (GRCm39)	I188L	probably benign	Het
Or8b12c	A	G	9: 37,715,242 (GRCm39)	I12V	probably benign	Het
Or8g51	T	A	9: 38,609,500 (GRCm39)	H58L	probably benign	Het
Pde10a	T	C	17: 9,161,750 (GRCm39)	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,198,855 (GRCm39)	T338S	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Rangap1	T	C	15: 81,590,704 (GRCm39)	T463A	probably benign	Het
Rap1gds1	T	C	3: 138,756,317 (GRCm39)	I13V	probably null	Het
Rbak	A	T	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Reg3b	A	T	6: 78,348,797 (GRCm39)	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,118,533 (GRCm39)	Y12*	probably null	Het
Rnase6	A	G	14: 51,367,889 (GRCm39)	N94D	possibly damaging	Het
Rtn4	T	C	11: 29,686,464 (GRCm39)	L273P	probably damaging	Het
Ryr3	A	C	2: 112,624,812 (GRCm39)	F2203V	probably damaging	Het
Sae1	A	T	7: 16,102,490 (GRCm39)	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,877 (GRCm39)	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,837,897 (GRCm39)	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc25a25	C	T	2: 32,310,663 (GRCm39)		probably null	Het
Slco4c1	T	A	1: 96,795,654 (GRCm39)	M135L	probably benign	Het
Slfn1	A	G	11: 83,012,579 (GRCm39)	I232V	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Srr	A	G	11: 74,799,542 (GRCm39)	V311A	probably damaging	Het
Tasor	T	C	14: 27,160,621 (GRCm39)	S128P	probably damaging	Het
Tasor	C	T	14: 27,201,746 (GRCm39)	H1419Y	possibly damaging	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Topors	T	C	4: 40,261,044 (GRCm39)	R747G	unknown	Het
Trank1	A	T	9: 111,220,696 (GRCm39)	I2478F	probably damaging	Het
Trim69	A	G	2: 121,998,165 (GRCm39)	N46D	probably benign	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttn	T	C	2: 76,644,649 (GRCm39)	K4708R	probably damaging	Het
Unkl	A	G	17: 25,428,619 (GRCm39)		probably benign	Het
Uros	A	T	7: 133,288,735 (GRCm39)	N257K	probably benign	Het
Usp25	A	G	16: 76,873,259 (GRCm39)	Y439C	probably damaging	Het
Vgf	A	G	5: 137,061,029 (GRCm39)		probably benign	Het
Vmn2r8	A	T	5: 108,947,152 (GRCm39)	D533E	probably damaging	Het
Vps13a	A	T	19: 16,702,995 (GRCm39)	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,545,742 (GRCm39)	V135A	possibly damaging	Het

Other mutations in Pgghg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Pgghg	APN	7	140,525,264 (GRCm39)	critical splice donor site	probably null
IGL00848:Pgghg	APN	7	140,522,317 (GRCm39)	missense	probably damaging	1.00
IGL01903:Pgghg	APN	7	140,526,741 (GRCm39)	missense	probably benign	0.03
IGL02060:Pgghg	APN	7	140,526,546 (GRCm39)	missense	probably benign	0.30
IGL02475:Pgghg	APN	7	140,525,633 (GRCm39)	missense
IGL02519:Pgghg	APN	7	140,524,894 (GRCm39)	missense	possibly damaging	0.94
IGL02612:Pgghg	APN	7	140,526,251 (GRCm39)	missense	probably damaging	1.00
R0689:Pgghg	UTSW	7	140,523,191 (GRCm39)	missense	probably benign	0.08
R1696:Pgghg	UTSW	7	140,525,224 (GRCm39)	missense	possibly damaging	0.55
R2110:Pgghg	UTSW	7	140,523,453 (GRCm39)	missense	possibly damaging	0.72
R3809:Pgghg	UTSW	7	140,525,208 (GRCm39)	missense	probably damaging	1.00
R3890:Pgghg	UTSW	7	140,525,616 (GRCm39)	missense	probably damaging	0.99
R3891:Pgghg	UTSW	7	140,525,616 (GRCm39)	missense	probably damaging	0.99
R4622:Pgghg	UTSW	7	140,521,409 (GRCm39)	splice site	probably null
R5009:Pgghg	UTSW	7	140,523,303 (GRCm39)	missense	probably benign
R5058:Pgghg	UTSW	7	140,522,455 (GRCm39)	missense	possibly damaging	0.46
R5215:Pgghg	UTSW	7	140,526,477 (GRCm39)	missense	possibly damaging	0.64
R6122:Pgghg	UTSW	7	140,523,308 (GRCm39)	missense	possibly damaging	0.87
R6269:Pgghg	UTSW	7	140,526,097 (GRCm39)	missense	probably damaging	0.97
R6301:Pgghg	UTSW	7	140,526,289 (GRCm39)	missense	probably damaging	1.00
R6562:Pgghg	UTSW	7	140,526,506 (GRCm39)	missense	probably benign	0.01
R7054:Pgghg	UTSW	7	140,524,631 (GRCm39)	missense	probably benign	0.15
R7241:Pgghg	UTSW	7	140,525,633 (GRCm39)	missense
R7320:Pgghg	UTSW	7	140,522,953 (GRCm39)	missense	probably benign	0.44
R7486:Pgghg	UTSW	7	140,522,393 (GRCm39)	missense	probably benign
R7665:Pgghg	UTSW	7	140,525,382 (GRCm39)	missense	probably damaging	1.00
R8859:Pgghg	UTSW	7	140,525,367 (GRCm39)	critical splice acceptor site	probably null
R9018:Pgghg	UTSW	7	140,524,579 (GRCm39)	missense	probably benign	0.05
R9647:Pgghg	UTSW	7	140,526,743 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- ACCCATCACAGTGCCGTTAC -3'
(R):5'- TGGGGAAGCTCACTGAACAG -3'

Sequencing Primer
(F):5'- CGTTACGGGCAGACTTCTC -3'
(R):5'- GCTCACTGAACAGGTAGTAGAG -3'

Posted On

2015-05-19